How muscles build their energy-making machinery
Regulation of OXPHOS Assembly in Skeletal Muscles
This project looks at how a protein called AIF helps muscle cells build and maintain mitochondria—the tiny structures that produce energy—for people with mitochondrial muscle disorders.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11370070 on NIH RePORTER |
What this research studies
The research focuses on the role of the AIF protein in assembling oxidative phosphorylation (OXPHOS) complexes in skeletal muscle mitochondria. Scientists will use cell models and animal experiments to compare normal and disease-linked AIF variants and measure effects on mitochondrial structure, protein assembly, and energy production. The team will connect molecular findings to known patient AIF mutations to explain why some people develop muscle weakness and atrophy. Results are intended to point to potential targets for future diagnostics or therapies for mitochondrial myopathies.
Who could benefit from this research
Good fit: People with inherited mitochondrial myopathies or known pathogenic AIF gene variants would be most directly relevant to this research.
Not a fit: Patients whose muscle problems are caused by non-mitochondrial conditions or unrelated diseases are unlikely to benefit directly from this specific work.
Why it matters
Potential benefit: If successful, this work could point to ways to restore mitochondrial energy production in muscle and inform new diagnostic tests or treatments for mitochondrial myopathies.
How similar studies have performed: Prior studies have linked AIF mutations to OXPHOS defects and muscle disease, but the exact role of AIF in OXPHOS complex assembly in muscle remains novel and not fully worked out.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Marks, Andrew Robert — Columbia University Health Sciences
- Study coordinator: Marks, Andrew Robert
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.